Canonical Allele Identifier: PA134948
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 44724
ClinVar RCV Id: RCV000037814 RCV000290549 RCV000321209 RCV000345561 RCV000756205
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Gly4Asp
CA134947
NM_004004.6:c.11G>A